Incidental Mutation 'R3421:D930048N14Rik'
ID267052
Institutional Source Beutler Lab
Gene Symbol D930048N14Rik
Ensembl Gene ENSMUSG00000052563
Gene NameRIKEN cDNA D930048N14 gene
Synonyms
MMRRC Submission 040639-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #R3421 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location51650954-51657681 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 51654958 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 226 (*226R)
Ref Sequence ENSEMBL: ENSMUSP00000069562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000064493] [ENSMUST00000117859] [ENSMUST00000142721] [ENSMUST00000156835]
Predicted Effect probably benign
Transcript: ENSMUST00000001080
SMART Domains Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053

DomainStartEndE-ValueType
low complexity region 176 207 N/A INTRINSIC
low complexity region 232 249 N/A INTRINSIC
coiled coil region 295 334 N/A INTRINSIC
Pfam:Fez1 359 442 2.3e-21 PFAM
Pfam:Fez1 433 519 4e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000064493
AA Change: *226R
SMART Domains Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563
AA Change: *226R

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117859
SMART Domains Protein: ENSMUSP00000113687
Gene: ENSMUSG00000052563

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142721
Predicted Effect probably benign
Transcript: ENSMUST00000156835
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,212,636 probably null Het
Agbl3 A G 6: 34,793,965 T132A probably benign Het
Amn1 A T 6: 149,169,452 L196* probably null Het
Ap3b2 C T 7: 81,473,850 probably benign Het
Armc4 T C 18: 7,223,523 probably benign Het
Atp7b C T 8: 22,028,670 D51N probably damaging Het
Brip1 A T 11: 86,152,669 Y356* probably null Het
Ccdc40 C T 11: 119,234,779 P348L probably benign Het
Chrdl2 G A 7: 100,023,868 C9Y probably damaging Het
Chst4 T C 8: 110,030,406 D192G probably damaging Het
Col9a2 C G 4: 121,054,258 R599G probably damaging Het
Dmgdh T C 13: 93,711,361 V522A probably benign Het
Dtx2 T A 5: 136,012,478 Y246N probably damaging Het
Fam19a1 C A 6: 96,649,138 D112E probably damaging Het
Gtf2ird1 T A 5: 134,388,500 M518L probably benign Het
Hoxc6 T A 15: 103,010,895 W188R probably damaging Het
Igfn1 C T 1: 135,976,917 probably null Het
Kcnip1 A G 11: 33,645,594 V43A probably damaging Het
Kif4-ps A T 12: 101,146,971 E453V probably damaging Het
Kifap3 T A 1: 163,794,026 I81N probably damaging Het
Mgat4d T C 8: 83,358,143 S172P probably damaging Het
Mr1 T C 1: 155,137,591 Y80C probably damaging Het
Nuak2 A G 1: 132,332,080 D532G probably benign Het
Olfr1230 C G 2: 89,296,553 S239T probably benign Het
Olfr1288 A G 2: 111,478,952 H56R probably benign Het
Olfr20 A G 11: 73,354,634 N294D probably damaging Het
Olfr26 A G 9: 38,855,325 K88E possibly damaging Het
Olfr725 T C 14: 50,034,540 T288A possibly damaging Het
Pik3cg A T 12: 32,204,739 F416L probably damaging Het
Prex1 A G 2: 166,617,854 V124A probably damaging Het
Psmb2 T C 4: 126,677,837 M28T probably damaging Het
Ric1 T C 19: 29,567,590 I230T probably damaging Het
Saysd1 T A 14: 20,082,926 K54N probably benign Het
Slc25a17 C T 15: 81,360,700 V11I probably benign Het
Slc5a4a T C 10: 76,176,573 V359A probably benign Het
Slc7a3 T A X: 101,080,875 probably benign Het
Slco1a5 A T 6: 142,268,238 D52E possibly damaging Het
Soat2 T C 15: 102,156,809 probably benign Het
Telo2 C T 17: 25,110,752 R262Q probably damaging Het
Zdhhc14 T A 17: 5,753,091 *490R probably null Het
Zfp217 A G 2: 170,120,017 F130S possibly damaging Het
Zfp712 C T 13: 67,052,392 V10M probably damaging Het
Other mutations in D930048N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:D930048N14Rik APN 11 51653783 unclassified probably benign
IGL01347:D930048N14Rik APN 11 51654788 unclassified probably benign
IGL01419:D930048N14Rik APN 11 51654776 unclassified probably benign
IGL02696:D930048N14Rik APN 11 51653994 unclassified probably benign
R0513:D930048N14Rik UTSW 11 51654928 unclassified probably benign
R1465:D930048N14Rik UTSW 11 51654913 unclassified probably benign
R1465:D930048N14Rik UTSW 11 51654913 unclassified probably benign
R1649:D930048N14Rik UTSW 11 51654836 unclassified probably benign
R1852:D930048N14Rik UTSW 11 51653865 unclassified probably benign
R3422:D930048N14Rik UTSW 11 51654958 makesense probably null
R4210:D930048N14Rik UTSW 11 51654805 unclassified probably benign
R5701:D930048N14Rik UTSW 11 51653729 splice site probably null
R6656:D930048N14Rik UTSW 11 51653749 unclassified probably benign
R8431:D930048N14Rik UTSW 11 51651119 frame shift probably null
R8505:D930048N14Rik UTSW 11 51651119 frame shift probably null
R8758:D930048N14Rik UTSW 11 51653741 missense unknown
Predicted Primers PCR Primer
(F):5'- ATGAACGAGACTAGATTCGTGC -3'
(R):5'- GGCTGTTGCAACTGTCAAGAG -3'

Sequencing Primer
(F):5'- ACTAGATTCGTGCAGGCAGCTG -3'
(R):5'- CCAGAGAGCGGATGAATTCCTATTC -3'
Posted On2015-02-18